A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370677



Internal ID15217653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122726895..122726905hg38UCSC Ensembl
Innerchr3:122726887..122726913hg38UCSC Ensembl
Outerchr3:122726877..122726921hg38UCSC Ensembl
chr3:122445742..122445752hg19UCSC Ensembl
Innerchr3:122445734..122445760hg19UCSC Ensembl
Outerchr3:122445724..122445768hg19UCSC Ensembl
chr3:123928432..123928442hg18UCSC Ensembl
Innerchr3:123928450..123928424hg18UCSC Ensembl
Outerchr3:123928414..123928458hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8915303, essv8915306, essv8915299, essv8915311, essv8915271, essv8915312, essv8915283, essv8915314, essv8915272, essv8915305, essv8915274, essv8915276, essv8915275, essv8915278, essv8915282, essv8915300, essv8915309, essv8915315, essv8915287, essv8915289, essv8915310, essv8915294, essv8915296, essv8915307, essv8915285, essv8915308, essv8915286, essv8915318, essv8915292, essv8915290, essv8915284, essv8915298, essv8915304, essv8915295, essv8915293, essv8915279, essv8915277, essv8915297, essv8915270, essv8915317, essv8915281, essv8915301, essv8915316, essv8915288, essv8915273
SamplesNA18502, NA18592, NA18980, NA18561, NA18959, NA18526, NA18510, NA12155, NA18944, NA18940, NA18550, NA18489, NA18960, NA18942, NA18582, NA18571, NA18964, NA18949, NA12828, NA18638, NA10847, NA18951, NA18605, NA12489, NA12003, NA18572, NA18537, NA18566, NA18573, NA19114, NA18532, NA19099, NA19225, NA18523, NA18593, NA18608, NA18961, NA18517, NA12763, NA18609, NA18505, NA19129, NA12006, NA18562, NA18965
Known GenesPARP14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370677
Frequency
Sample Size185
Observed Gain45
Observed Loss0
Observed Complex0
Frequencyn/a


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